Good News from Venezuela: Victoria's Story - From Gaucher Disease to
Computer Science Engineering

Victoria was born and raised in Venezuela. As a
proud father, he has asked for her story to be published here.

Victoria was diagnosed with Gauchers disease at nine years old. Before
this time, her parents could not think what was causing her unusual looks of
short stature and big belly. She also looked three years younger than her
classmates.

In Venezuela, where she was born and where she still lives, no one in
the medical community had any idea either. Only one famous local medical doctor
and researcher ventured to guess that she might have a rare genetic ailment
called Niemann Pick disease. The bad news was there was nothing at the time
(1990) to alleviate or cure this uncommon malady.

Diagnosis and Treatment

After several useless trips to various parts of the world, Gaucher
disease was diagnosed by an Israeli doctor, Dr Reuben J Mathalon, who was
practising internal medicine in one of Miami's most important community
children's hospitals.

From then on, things finally took a dif-ferent course. In 1992 Victoria
was referred by Dr Mathalon to a research trial for Gaucher disease taking
place at the famous National Institutes of Health, better known as NIH, in
Bethesda, USA, a few miles north of Washington DC. This protocol was expertly
conducted by Dr Roscoe Brady and Dr Norman Barton whose team had developed the
original enzyme replacement therapy, Ceredase, for Gaucher disease and which
was the precursor to the currently used Cerezyme.

The protocol finally ended in July 1993 and Victoria improved in
every-thing: platelet count, white cell, red cell, haemoglobin and, most
important to her, the size of her belly shrank. In addition, she grew several
inches, became much slender and learned a new language: English.

Previously she only communicated in her native Spanish and a few words
in Hungarian, her dad's native tongue. She returned to Venezuela to complete
her high school education, graduating in 1998 with high grades.

She was then accepted into one of Venezuela's best technical
univer-sities, where she majored in Computer Science Engineering. Her good
grades and scholastic achievement made her a recipient of a government funded
fellowship.

Graduation

Victoria graduated in 2003 when she was selected to deliver the
commencement speech. She is currently working as a coputer science engineer.